Enroll-HD

Publications

Publications leveraging Enroll-HD data, biosamples, and/or infrastructure.

Publications

Enroll-HD is both a worldwide observational study and a clinical research platform supporting various studies and trials, with an overall objective to accelerate HD therapeutic development. Clinical data and biosamples collected in Enroll-HD and other HD studies are made available through the Enroll-HD platform to any verified researcher per the Clinical Data and Biosample Access Policy to extract as much knowledge as possible. As ever, we are enormously grateful to the thousands of participants and families around the world who selflessly give their time and energy, as well as to the dedicated staff at the clinical sites who make Enroll-HD possible.

When publishing their findings, researchers using these data and biosamples are expected to adhere to the Enroll-HD publication policy, including full acknowledgement of the individuals who contributed to the collection of the Enroll-HD data. The publications hosted here have all used the Enroll-HD datasets that are periodically made available and illustrate some of the areas of HD research that Enroll-HD is directly influencing.

If your publication that uses Enroll-HD data is not included in this gallery, or you know of a publication that should be included, then please let us know at info@chdifoundation.org.

Authors

Title

Journal

Pollard A, Greetham D, Myatt J, Rickards H, Stanley C, Dungate D

Data-driven Huntington's disease progression modelling and estimation of societal cost in the UK
R Soc Open Sci
Nov 20, 2024
11 (11) :240824
PMID: 39569347
PMCID: 11576117

Yao J, Feng B S G, Shao M S G, Mendizabal A, Telesca D, Fang K, Ibragimova L, Shoaib J, Morrison MA, Lupo JM

Interplay between sex and disease burden in Huntington's disease: Clinical and neuroimaging perspectives
MedRxiv [Preprint]
Nov 02, 2024
PMID: 39574844
PMCID: 11581089

Funcis A, Ravera B, Zinzi P, Solito M, Petracca M, Calabresi P, Bentivoglio AR

Neuroleptic malignant syndrome in Huntington disease
Eur J Neurol
Oct 23, 2024
:e16442
PMID: 39444167

Feleus S, Skotnicki LEM, Roos RAC, de Bot ST

Medication use and treatment indications in Huntington's disease; analyses from a large cohort
Mov Disord Clin Pract
Oct 21, 2024
PMID: 39431460

Di Cecca A, Ilardi CR, Della Pia F, Criscuolo C, Della Sala S, Salvatore E

Distortion errors characterise visuo-constructive performance in Huntington's disease
Clin Neuropsychol
Oct 11, 2024
:1-19
PMID: 39394675

Mills JA, Long JD, Vaidya JG, Gantman EC, Sathe S, Tabrizi SJ, Sampaio C

Time to functional loss as an endpoint in Huntington's disease trials: Enrichment and sample size
Mov Disord
Oct 01, 2024
39 (10) :1809-1816
PMID: 39101272

Guzauskas GF, Tabrizi SJ, Long JD, Arnesen A, Hamilton JL, Claassen DO, Munetsi LR, Malik S, Rodríguez-Santana I, Ali TM, Zhang F

Long-term health outcomes of Huntington disease and the impact of future disease-modifying treatments: A decision-modeling analysis
Neurol Clin Pract
Oct 01, 2024
14 (5) :e200340
PMID: 39161748
PMCID: 11332983

Schoenmakers DH, van den Berg S, Timmers L, Adang LA, Bäumer T, Bosch A, van de Casteele M, Datema MR, Dekker H, Donnelly C, Driessens MHE, Graessner H, Greger V, Haddad T, Höglinger GU, van den Hout H, Jonker C, Langeveld M, Lambert LJ, Neacy E, …Wolf NI

Framework for multistakeholder patient registries in the field of rare diseases: Focus on neurogenetic diseases
Neurology
Sep 24, 2024
103 (6) :e209743
PMID: 39173102

Bakels HS, Feleus S, Rodríguez-Girondo M, Losekoot M, Bijlsma EK, Roos RAC, de Bot ST

Prevalence of juvenile-onset and pediatric Huntington's disease and their availability and ability to participate in trials: A Dutch population and Enroll-HD observational study
J Huntingtons Dis
Sep 10, 2024
13 (3) :357-368
PMID: 39121132

Gray SM, Dai J, Smith AC, Beckley JT, Rahmati N, Lewis MC, Quirk MC

Changes in 24(S)-hydroxycholesterol are associated with cognitive performance in early Huntington's disease: Data from the TRACK and ENROLL HD cohorts
J Huntingtons Dis
Sep 05, 2024
PMID: 39269850

Ioakeimidis V, Busse M, Drew CJG, Pallmann P, Watson GB, Jones D, Palombo M, Schubert R, Rosser AE, Metzler-Baddeley C

Protocol for a randomised controlled unblinded feasibility trial of HD-DRUM: a rhythmic movement training application for cognitive and motor symptoms in people with Huntington's disease
BMJ Open
Jul 31, 2024
14 (7) :e082161
PMID: 39089721

Ruiz de Sabando A, Ciosi M, Galbete A, Cumming SA, Spanish HD Collaborative Group, Monckton DG, Ramos-Arroyo MA

Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype
Eur J Hum Genet
Jul 01, 2024
32 (7) :770-778
PMID: 38433266
PMCID: 11220145

Gil-Salcedo A, Massart R, de Langavant LC, Bachoud-Levi AC

Modifiable factors associated with Huntington's disease progression in presymptomatic participants
Ann Clin Transl Neurol
Jul 01, 2024
11 (7) :1930-1941
PMID: 38855890
PMCID: 11251488

Sprenger GP, van Zwet EW, Bakels HS, Achterberg WP, Roos RA, de Bot ST

Prevalence and burden of pain across the entire spectrum of Huntington's disease
J Neurol Neurosurg Psychiatry
Jun 17, 2024
95 (7) :647-655
PMID: 38290837

Delussi M, Valt C, Silvestri A, Ricci K, Ladisa E, Ammendola E, Rampino A, Pergola G, de Tommaso M

Auditory mismatch negativity in pre-manifest and manifest Huntington's disease
Clin Neurophysiol
Jun 01, 2024
162 :121-128
PMID: 38603947

Lozano-Garcia M, Doheny EP, Mann E, Morgan-Jones P, Drew C, Busse-Morris M, Lowery MM

Estimation of gait parameters in Huntington's disease using wearable sensors in the clinic and free-living conditions
IEEE Trans Neural Syst Rehabil
May 31, 2024
PMID: 38819972

Raschka T, Li Z, Gaßner H, Kohl Z, Jukic J, Marxreiter F, Fröhlich H

Unraveling progression subtypes in people with Huntington's disease
EPMA J
May 28, 2024
15 (2) :275-287
PMID: 38841617
PMCID: 11148000

Fahed VS, Doheny EP, Collazo C, Krzysztofik J, Mann E, Morgan-Jones P, Mills L, Drew C, Rosser AE, Cousins R, Witkowski G, Cubo E, Busse M, Lowery MM

Language-independent acoustic biomarkers for quantifying speech impairment in Huntington's disease
Am J Speech Lang Pathol
May 01, 2024
33 (3) :1-16
PMID: 38530396

Migliore S, Bianco SD, Scocchia M, Maffi S, Busi LC, Ceccarelli C, Curcio G, Mazza T, Squitieri F

Prodromal cognitive changes as a prognostic indicator of forthcoming Huntington's disease severity: A retrospective longitudinal study
Mov Disord Clin Pract
Apr 02, 2024
11 (4) :363-372
PMID: 38264920
PMCID: 10982604

Knights H, Coleman A, Hobbs NZ, Tabrizi SJ, Scahill RI, HD-YAS investigators

Freesurfer software update significantly impacts striatal volumes in the Huntington's disease young adult study and will influence HD-ISS staging
J Huntingtons Dis
Mar 29, 2024
13 (1) :77-90
PMID: 38489194

Pfalzer AC, Shiino S, Silverman J, Codreanu SG, Sherrod SD, McLean JA, Claassen DO

Alterations in cerebrospinal fluid urea occur in late manifest Huntington's disease
J Huntingtons Dis
Mar 29, 2024
13 (1) :103-111
PMID: 38461512

Gaudet ID, Xu H, Gordon E, Cannestro GA, Lu ML, Wei J

Elevated SLC7A2 expression is associated with an abnormal neuroinflammatory response and nitrosative stress in Huntington's disease
J Neuroinflammation
Feb 28, 2024
21 (1) :59
PMID: 38419038
PMCID: 10900710

Sun Z, Ware J, Dey S, Eyigoz E, Sathe S, Sampaio C, Hu J

Large-scale screening of clinical assessments to distinguish between states in the Integrated HD Progression Model (IHDPM)
Front Aging Neurosci
Feb 13, 2024
16 :1320755
PMID: 38414632
PMCID: 10896990

Nopoulos S, Reasoner EE, Ogilvie AC, Killoran A, Schultz JL

Evaluating motor progression of juvenile-onset Huntington's Disease: An Enroll-HD analysis
Parkinsonism Relat Disord
Feb 01, 2024
119 (105954)
PMID: 38142629

Achenbach J, Stodt B, Saft C

Factors influencing the total functional capacity score as a critical endpoint in Huntington's disease research
Biomedicines
Dec 17, 2023
11 (12) :3336
PMID: 38137557
PMCID: 10741795

Jeyakumar N, Hilmer SN, Teixeira-Pinto A, Loy CT

Frailty and associated environmental factors only have small effects on age of onset in Huntington's disease
J Huntingtons Dis
Dec 15, 2023
12 (4) :355-361
PMID: 38007671

Mendizabal A, Singh AP, Perlman S, Brown A, Bordelon Y

Disparities in Huntington disease severity: Analysis using the ENROLL-HD dataset
Neurol Clin Pract
Dec 01, 2023
13 (6) :e200200
PMID: 37795504

Langbehn DR, Sathe SS, Loy C, Sampaio C, Mccusker EA

A phenotypic atlas for Huntington disease based on data from the Enroll-HD cohort study
Neurol Genet
Dec 01, 2023
9 (6) :e200111
PMID: 38035176
PMCID: 10684052

Horta-Barba A, Martinez-Horta S, Pérez-Pérez J, Puig-Davi A, de Lucia N, de Michele G, Salvatore E, Kehrer S, Priller J, Migliore S, Squitieri F, Castaldo A, Mariotti C, Mañanes V, Lopez-Sendon JL, …Cognitive Phenotype Working Group of the European Huntington’s Disease Network

Measuring cognitive impairment and monitoring cognitive decline in Huntington's disease: a comparison of assessment instruments
J Neurol
Nov 01, 2023
270 (11) :5408-5417
PMID: 37462754
PMCID: 10576674

Buchanan DA, Brown AE, Osigwe EC, Pfalzer AC, Mann LG, Yan Y, Kang H, Claassen DO

Racial differences in the presentation and progression of Huntington's disease
Mov Disord
Oct 01, 2023
38 (10) :1945-1949
PMID: 37559498

Mühlbäck A, Mana J, Wallner M, Frank W, Lindenberg KS, Hoffmann R, Klempířová O, Klempíř J, Landwehrmeyer GB, Bezdicek O, REGISTRY investigators of the European Huntington’s Disease Network, the Enroll-HD investigators

Establishing normative data for the evaluation of cognitive performance in Huntington's disease considering the impact of gender, age, language, and education
J Neurol
Oct 01, 2023
270 (10) :4903-4913
PMID: 37347292
PMCID: 10511566

Ouwerkerk J, Feleus S, van der Zwaan KF, Li Y, Roos M, van Roon-Mom WMC, de Bot ST, Wolstencroft KJ, Mina E

Machine learning in Huntington's disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction
Orphanet J Rare Dis
Jul 27, 2023
18 (1) :218
PMID: 37501188

Sierra LA, Ullman CJ, Baselga-Garriga C, Pandeya SR, Frank SA, Laganiere S

Prevalence of neurocognitive disorder in Huntington's disease using the Enroll-HD dataset
Front Neurol
Jul 14, 2023
14 :1198145
PMID: 37521291
PMCID: 10375015

Sokol LL, Nance M, Kluger BM, Yeh C, Paulsen JS, Smith AK, Bega D

Factors associated with the place of death in Huntington disease: Analysis of Enroll-HD
J Palliat Med
Jul 01, 2023
26 (7) :915-921
PMID: 36706436
PMCID: 10316529

Martínez-Horta S, Perez-Perez J, Oltra-Cucarella J, Sampedro F, Horta-Barba A, Puig-Davi A, Pagonabarraga J, Kulisevsky J

Divergent cognitive trajectories in early stage Huntington's disease: A 3-year longitudinal study
Eur J Neurol
Jul 01, 2023
30 (7) :1871-1879
PMID: 36994811

Heinzmann A, Sayah S, Lejeune FX, Hahn V, Teichmann M, Monin ML, Marchionni E, Gérard F, Charles P, Pariente J, Durr A

Huntington's disease with small CAG repeat expansions
Mov Disord
Jul 01, 2023
38 (7) :1294-1306
PMID: 37288993

Hamilton JL, Mills JA, Stebbins GT, Long JD, Fuller RLM, Sathe S, Roché M, Sampaio C

Defining clinical meaningfulness in Huntington's disease
Mov Disord
Jun 02, 2023
38 (6) :1036-1043
PMID: 37147862

Ogilvie AC, Schultz JL

Memantine use and cognitive decline in Huntington's disease: An Enroll-HD study
Mov Disord Clin Pract
May 16, 2023
10 (7) :1120-1125
PMID: 37476323
PMCID: 10354618

Long JD, Gantman EC, Mills JA, Vaidya JG, Mansbach A, Tabrizi SJ, Sampaio C

Applying the Huntington's Disease Integrated Staging System (HD-ISS) to observational studies
J Huntingtons Dis
May 02, 2023
12 (1) :57-69
PMID: 37092230

Gunn S, Dale M, Ovaska-Stafford N, Maltby J

Mental health symptoms among those affected by Huntington's disease: A cross-sectional study
Brain Behav
Apr 01, 2023
13 (4) :e2954
PMID: 36880126
PMCID: 10097147
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